| Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. | |
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MedLine Citation:
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PMID: 19089597 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We report a 16-month-old asymptomatic male with enzyme confirmed isovaleric acidaemia (IVA; isovaleryl-CoA dehydrogenase deficiency; OMIM 243500) who, upon routine nutritional follow-up, presented evidence of peroxisomal dysfunction. The newborn screen (2 days of life) revealed elevated C(5)-carnitine (2.95 μmol/L; cutoff <0.09 μmol/L) and IVA was subsequently confirmed by metabolic profiling and in vitro enzymology. Plasma essential fatty acid (EFA) analysis, assessed to evaluate nutritional status during protein restriction and L: -carnitine supplementation, revealed elevated C(26:0) (5.0 μmol/L; normal <1.3). Subsequently, metabolic profiling and molecular genetic analysis confirmed X-linked adrenoleukodystrophy (XALD). Identification of co-inherited XALD with IVA in this currently asymptomatic patient holds significant treatment ramifications for the proband prior to the onset of neurological sequelae, and critically important counselling implications for this family. |
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Authors:
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R Bonilla Guerrero; L A Wolfe; N Payne; S Tortorelli; D Matern; P Rinaldo; D Gavrilov; M Melan; M He; S J Steinberg; G V Raymond; J Vockley; K M Gibson |
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Publication Detail:
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Type: Journal Article Date: 2008-12-16 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 31 Suppl 2 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2011-09-06 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 453-6 Citation Subset: IM |
Affiliation:
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Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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